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Descriptor English: Myopathies, Structural, Congenital
Descriptor Spanish: Miopatías Estructurales Congénitas
Descriptor miopatías estructurales congénitas
Entry term(s) desproporción congénita de tipos de fibras
miopatía centronuclear
miopatía con agregados tubulares
miopatía miotubular
Scope note: Grupo heterogéneo de enfermedades caracterizadas por el inicio temprano de hipotonía, retraso en el desarrollo de las habilidades motoras y debilidad no progresiva. Cada uno de estos trastornos se asocia con una anomalía histológica específica de la fibra muscular.
Descriptor Portuguese: Miopatias Congênitas Estruturais
Descriptor French: Myopathies congénitales structurales
Entry term(s): Aggregate Myopathies, Tubular
Aggregate Myopathy, Tubular
Autosomal Dominant Myotubular Myopathy
Autosomal Recessive Centronuclear Myopathy
CFTDM
Centronuclear Myopathies
Centronuclear Myopathies, X-Linked
Centronuclear Myopathy
Centronuclear Myopathy, X-Linked
Congenital Fiber Type Disproportion
Congenital Fiber-Type Disproportion
Congenital Fiber-Type Disproportions
Congenital Myopathy with Fiber Type Disproportion
Congenital Non Progressive Myopathies
Congenital Non-Progressive Myopathies
Congenital Non-Progressive Myopathy
Congenital Structural Myopathies
Congenital Structural Myopathy
Disproportion, Congenital Fiber-Type
Disproportions, Congenital Fiber-Type
Fiber Type Disproportion Myopathy, Congenital
Fiber-Type Disproportion Myopathy, Congenital
Fiber-Type Disproportion, Congenital
Fiber-Type Disproportions, Congenital
Myopathies, Centronuclear
Myopathies, Congenital Non-Progressive
Myopathies, Congenital Structural
Myopathies, Myotubular
Myopathies, Tubular Aggregate
Myopathies, X-Linked Centronuclear
Myopathies, X-Linked Myotubular
Myopathy, Centronuclear
Myopathy, Centronuclear, 1
Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Congenital Non-Progressive
Myopathy, Congenital Structural
Myopathy, Congenital, With Fiber-Type Disproportion
Myopathy, Myotubular
Myopathy, Tubular Aggregate
Myopathy, X-Linked Centronuclear
Myopathy, X-Linked Myotubular
Myotubular Myopathies
Myotubular Myopathies, X-Linked
Myotubular Myopathy
Myotubular Myopathy 1
Myotubular Myopathy, Autosomal Dominant
Myotubular Myopathy, X Linked
Myotubular Myopathy, X-Linked
Non Progressive Myopathies, Congenital
Non-Progressive Myopathies, Congenital
Non-Progressive Myopathy, Congenital
Structural Myopathies, Congenital
Structural Myopathy, Congenital
Tubular Aggregate Myopathies
Tubular Aggregate Myopathy
X Linked Centronuclear Myopathy
X Linked Myotubular Myopathy
X-Linked Centronuclear Myopathies
X-Linked Centronuclear Myopathy
X-Linked Myotubular Myopathies
X-Linked Myotubular Myopathy
XLMTM
Tree number(s): C05.651.575
C10.668.491.550
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D020914
Scope note: A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Muscular Atrophy (1976-1999)
Neuromuscular Diseases (1976-1999)
Public MeSH Note: 2000
History Note: 2000
Entry Version: MYOPATHIES STRUCTURAL CONGEN
DeCS ID: 34194
Unique ID: D020914
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2000/01/01
Date of Entry: 1999/11/09
Revision Date: 2019/07/05
Myopathies, Structural, Congenital - Preferred
Concept UI M0328270
Scope note A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality.
Preferred term Myopathies, Structural, Congenital
Entry term(s) Congenital Non Progressive Myopathies
Congenital Non-Progressive Myopathies
Congenital Non-Progressive Myopathy
Congenital Structural Myopathies
Congenital Structural Myopathy
Myopathies, Congenital Non-Progressive
Myopathies, Congenital Structural
Myopathies, Myotubular
Myopathy, Congenital Non-Progressive
Myopathy, Congenital Structural
Myopathy, Myotubular
Myotubular Myopathies
Myotubular Myopathy
Non Progressive Myopathies, Congenital
Non-Progressive Myopathies, Congenital
Non-Progressive Myopathy, Congenital
Structural Myopathies, Congenital
Structural Myopathy, Congenital
Autosomal Recessive Centronuclear Myopathy - Narrower
Concept UI M0584458
Preferred term Autosomal Recessive Centronuclear Myopathy
Congenital Fiber Type Disproportion - Narrower
Concept UI M0335641
Preferred term Congenital Fiber Type Disproportion
Entry term(s) CFTDM
Congenital Fiber-Type Disproportion
Congenital Fiber-Type Disproportions
Congenital Myopathy with Fiber Type Disproportion
Disproportion, Congenital Fiber-Type
Disproportions, Congenital Fiber-Type
Fiber Type Disproportion Myopathy, Congenital
Fiber-Type Disproportion Myopathy, Congenital
Fiber-Type Disproportion, Congenital
Fiber-Type Disproportions, Congenital
Myopathy, Congenital, With Fiber-Type Disproportion
Myopathy, Centronuclear, Autosomal Dominant - Related but not broader or narrower
Concept UI M0563844
Preferred term Myopathy, Centronuclear, Autosomal Dominant
Entry term(s) Myotubular Myopathy, Autosomal Dominant
Autosomal Dominant Myotubular Myopathy - Narrower
Concept UI M0584457
Preferred term Autosomal Dominant Myotubular Myopathy
Myotubular Myopathy, X-Linked - Narrower
Concept UI M000611101
Preferred term Myotubular Myopathy, X-Linked
Entry term(s) Centronuclear Myopathies, X-Linked
Centronuclear Myopathy, X-Linked
Myopathies, X-Linked Centronuclear
Myopathies, X-Linked Myotubular
Myopathy, X-Linked Centronuclear
Myopathy, X-Linked Myotubular
Myotubular Myopathies, X-Linked
Myotubular Myopathy 1
Myotubular Myopathy, X Linked
X Linked Centronuclear Myopathy
X Linked Myotubular Myopathy
X-Linked Centronuclear Myopathies
X-Linked Centronuclear Myopathy
X-Linked Myotubular Myopathies
X-Linked Myotubular Myopathy
XLMTM
Centronuclear Myopathy - Narrower
Concept UI M0335640
Preferred term Centronuclear Myopathy
Entry term(s) Centronuclear Myopathies
Myopathies, Centronuclear
Myopathy, Centronuclear
Tubular Aggregate Myopathy - Narrower
Concept UI M0335643
Preferred term Tubular Aggregate Myopathy
Entry term(s) Aggregate Myopathies, Tubular
Aggregate Myopathy, Tubular
Myopathies, Tubular Aggregate
Myopathy, Tubular Aggregate
Tubular Aggregate Myopathies
Myopathy, Centronuclear, 1 - Narrower
Concept UI M000648336
Preferred term Myopathy, Centronuclear, 1



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